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Clinical Utility and Diagnostic Yield of Genetic Testing for Inherited Neuromuscular Disorders in a Single, Large Neuromuscular Center.

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Title: Clinical Utility and Diagnostic Yield of Genetic Testing for Inherited Neuromuscular Disorders in a Single, Large Neuromuscular Center.
Authors: Ebert SE; Department of Neurology (SEE), University of Virginia, Charlottesville; Department of Physical Medicine and Rehabilitation (JBM), Mayo Clinic, Rochester, MN; and Department of Neurology (JBC, RKGM, VBP, AP, MSC), Wake Forest School of Medicine, Winston-Salem, NC., Meiling JB; Department of Neurology (SEE), University of Virginia, Charlottesville; Department of Physical Medicine and Rehabilitation (JBM), Mayo Clinic, Rochester, MN; and Department of Neurology (JBC, RKGM, VBP, AP, MSC), Wake Forest School of Medicine, Winston-Salem, NC., Caress JB; Department of Neurology (SEE), University of Virginia, Charlottesville; Department of Physical Medicine and Rehabilitation (JBM), Mayo Clinic, Rochester, MN; and Department of Neurology (JBC, RKGM, VBP, AP, MSC), Wake Forest School of Medicine, Winston-Salem, NC., Gandhi Mehta RK; Department of Neurology (SEE), University of Virginia, Charlottesville; Department of Physical Medicine and Rehabilitation (JBM), Mayo Clinic, Rochester, MN; and Department of Neurology (JBC, RKGM, VBP, AP, MSC), Wake Forest School of Medicine, Winston-Salem, NC., Baute Penry V; Department of Neurology (SEE), University of Virginia, Charlottesville; Department of Physical Medicine and Rehabilitation (JBM), Mayo Clinic, Rochester, MN; and Department of Neurology (JBC, RKGM, VBP, AP, MSC), Wake Forest School of Medicine, Winston-Salem, NC., Puwanant A; Department of Neurology (SEE), University of Virginia, Charlottesville; Department of Physical Medicine and Rehabilitation (JBM), Mayo Clinic, Rochester, MN; and Department of Neurology (JBC, RKGM, VBP, AP, MSC), Wake Forest School of Medicine, Winston-Salem, NC., Cartwright MS; Department of Neurology (SEE), University of Virginia, Charlottesville; Department of Physical Medicine and Rehabilitation (JBM), Mayo Clinic, Rochester, MN; and Department of Neurology (JBC, RKGM, VBP, AP, MSC), Wake Forest School of Medicine, Winston-Salem, NC.
Source: Neurology. Clinical practice [Neurol Clin Pract] 2024 Apr; Vol. 14 (2), pp. e200268. Date of Electronic Publication: 2024 Feb 01.
Publication Type: Journal Article
Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101577149 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2163-0402 (Print) Linking ISSN: 21630402 NLM ISO Abbreviation: Neurol Clin Pract Subsets: PubMed not MEDLINE
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  Data: Clinical Utility and Diagnostic Yield of Genetic Testing for Inherited Neuromuscular Disorders in a Single, Large Neuromuscular Center.
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  Data: <searchLink fieldCode="AU" term="%22Ebert+SE%22">Ebert SE</searchLink>; Department of Neurology (SEE), University of Virginia, Charlottesville; Department of Physical Medicine and Rehabilitation (JBM), Mayo Clinic, Rochester, MN; and Department of Neurology (JBC, RKGM, VBP, AP, MSC), Wake Forest School of Medicine, Winston-Salem, NC.<br /><searchLink fieldCode="AU" term="%22Meiling+JB%22">Meiling JB</searchLink>; Department of Neurology (SEE), University of Virginia, Charlottesville; Department of Physical Medicine and Rehabilitation (JBM), Mayo Clinic, Rochester, MN; and Department of Neurology (JBC, RKGM, VBP, AP, MSC), Wake Forest School of Medicine, Winston-Salem, NC.<br /><searchLink fieldCode="AU" term="%22Caress+JB%22">Caress JB</searchLink>; Department of Neurology (SEE), University of Virginia, Charlottesville; Department of Physical Medicine and Rehabilitation (JBM), Mayo Clinic, Rochester, MN; and Department of Neurology (JBC, RKGM, VBP, AP, MSC), Wake Forest School of Medicine, Winston-Salem, NC.<br /><searchLink fieldCode="AU" term="%22Gandhi+Mehta+RK%22">Gandhi Mehta RK</searchLink>; Department of Neurology (SEE), University of Virginia, Charlottesville; Department of Physical Medicine and Rehabilitation (JBM), Mayo Clinic, Rochester, MN; and Department of Neurology (JBC, RKGM, VBP, AP, MSC), Wake Forest School of Medicine, Winston-Salem, NC.<br /><searchLink fieldCode="AU" term="%22Baute+Penry+V%22">Baute Penry V</searchLink>; Department of Neurology (SEE), University of Virginia, Charlottesville; Department of Physical Medicine and Rehabilitation (JBM), Mayo Clinic, Rochester, MN; and Department of Neurology (JBC, RKGM, VBP, AP, MSC), Wake Forest School of Medicine, Winston-Salem, NC.<br /><searchLink fieldCode="AU" term="%22Puwanant+A%22">Puwanant A</searchLink>; Department of Neurology (SEE), University of Virginia, Charlottesville; Department of Physical Medicine and Rehabilitation (JBM), Mayo Clinic, Rochester, MN; and Department of Neurology (JBC, RKGM, VBP, AP, MSC), Wake Forest School of Medicine, Winston-Salem, NC.<br /><searchLink fieldCode="AU" term="%22Cartwright+MS%22">Cartwright MS</searchLink>; Department of Neurology (SEE), University of Virginia, Charlottesville; Department of Physical Medicine and Rehabilitation (JBM), Mayo Clinic, Rochester, MN; and Department of Neurology (JBC, RKGM, VBP, AP, MSC), Wake Forest School of Medicine, Winston-Salem, NC.
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  Data: <searchLink fieldCode="JN" term="%22101577149%22">Neurology. Clinical practice</searchLink> [Neurol Clin Pract] 2024 Apr; Vol. 14 (2), pp. e200268. <i>Date of Electronic Publication: </i>2024 Feb 01.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Lippincott+Williams+%26+Wilkins%22">Lippincott Williams & Wilkins </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101577149 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>2163-0402 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2221630402%22">21630402 </searchLink><i>NLM ISO Abbreviation: </i>Neurol Clin Pract <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1212/CPJ.0000000000200268
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              Text: 2024 Apr
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